Incidental Mutation 'IGL02393:Stkld1'
| ID |
293886 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stkld1
|
| Ensembl Gene |
ENSMUSG00000049897 |
| Gene Name |
serine/threonine kinase-like domain containing 1 |
| Synonyms |
LOC279029, Gm711 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26824059-26843508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26840154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 408
(V408A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055406]
[ENSMUST00000064244]
[ENSMUST00000114020]
[ENSMUST00000136710]
|
| AlphaFold |
Q80YS9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055406
AA Change: V408A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: V408A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
3 |
266 |
8e-35 |
PFAM |
|
Pfam:Pkinase_Tyr
|
7 |
262 |
4.5e-27 |
PFAM |
|
low complexity region
|
352 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
456 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064244
|
| SMART Domains |
Protein: ENSMUSP00000070815
Gene: ENSMUSG00000052406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
197 |
N/A |
INTRINSIC |
|
EXOIII
|
229 |
390 |
2.55e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114020
|
| SMART Domains |
Protein: ENSMUSP00000109653
Gene: ENSMUSG00000052406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
220 |
N/A |
INTRINSIC |
|
EXOIII
|
252 |
413 |
2.55e-43 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123126
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136710
|
| SMART Domains |
Protein: ENSMUSP00000121599
Gene: ENSMUSG00000052406
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
197 |
N/A |
INTRINSIC |
|
EXOIII
|
229 |
363 |
1.57e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139635
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145546
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,410,069 (GRCm39) |
Y129N |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,902,872 (GRCm39) |
K695R |
probably damaging |
Het |
| Arhgap18 |
T |
G |
10: 26,753,179 (GRCm39) |
S357R |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,828,334 (GRCm39) |
H1130R |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,867,844 (GRCm39) |
F35L |
probably damaging |
Het |
| Crnn |
A |
G |
3: 93,056,675 (GRCm39) |
H487R |
probably damaging |
Het |
| Dcaf4 |
C |
T |
12: 83,576,805 (GRCm39) |
P95L |
probably damaging |
Het |
| Deaf1 |
A |
T |
7: 140,893,246 (GRCm39) |
V382E |
possibly damaging |
Het |
| Dph7 |
T |
G |
2: 24,856,609 (GRCm39) |
V187G |
possibly damaging |
Het |
| Fat3 |
G |
T |
9: 15,899,708 (GRCm39) |
C3108* |
probably null |
Het |
| Ggt5 |
T |
C |
10: 75,446,071 (GRCm39) |
|
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,139,098 (GRCm39) |
V396M |
probably damaging |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mterf4 |
C |
T |
1: 93,230,601 (GRCm39) |
V182I |
possibly damaging |
Het |
| Nsg1 |
T |
C |
5: 38,316,255 (GRCm39) |
D32G |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,409 (GRCm39) |
I221T |
probably damaging |
Het |
| Or6c3 |
T |
C |
10: 129,309,064 (GRCm39) |
S168P |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,662 (GRCm39) |
V99E |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,811,575 (GRCm39) |
Y216C |
probably damaging |
Het |
| Pdzd9 |
A |
C |
7: 120,262,206 (GRCm39) |
Y85* |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,634,622 (GRCm39) |
V3589D |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,391,528 (GRCm39) |
T26A |
probably benign |
Het |
| Relch |
A |
G |
1: 105,615,093 (GRCm39) |
I253M |
probably damaging |
Het |
| Rhd |
T |
C |
4: 134,611,406 (GRCm39) |
S189P |
probably benign |
Het |
| Rhobtb1 |
A |
T |
10: 69,124,817 (GRCm39) |
H555L |
probably damaging |
Het |
| Rogdi |
G |
A |
16: 4,827,088 (GRCm39) |
S306F |
probably benign |
Het |
| Slc25a25 |
C |
T |
2: 32,307,855 (GRCm39) |
V259I |
probably benign |
Het |
| Srrm1 |
A |
T |
4: 135,048,725 (GRCm39) |
|
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,953,580 (GRCm39) |
V999A |
possibly damaging |
Het |
| Tmprss11d |
T |
A |
5: 86,451,471 (GRCm39) |
*280L |
probably null |
Het |
| Trim54 |
A |
G |
5: 31,289,324 (GRCm39) |
|
probably benign |
Het |
| Tspear |
G |
A |
10: 77,672,407 (GRCm39) |
R202H |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,420,417 (GRCm39) |
G1706D |
probably damaging |
Het |
|
| Other mutations in Stkld1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01128:Stkld1
|
APN |
2 |
26,841,483 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02183:Stkld1
|
APN |
2 |
26,836,671 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03136:Stkld1
|
APN |
2 |
26,841,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03261:Stkld1
|
APN |
2 |
26,842,789 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0067:Stkld1
|
UTSW |
2 |
26,839,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0067:Stkld1
|
UTSW |
2 |
26,839,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0973:Stkld1
|
UTSW |
2 |
26,841,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1065:Stkld1
|
UTSW |
2 |
26,830,050 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1467:Stkld1
|
UTSW |
2 |
26,839,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1467:Stkld1
|
UTSW |
2 |
26,839,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1565:Stkld1
|
UTSW |
2 |
26,840,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1844:Stkld1
|
UTSW |
2 |
26,840,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Stkld1
|
UTSW |
2 |
26,827,985 (GRCm39) |
unclassified |
probably benign |
|
|
R1965:Stkld1
|
UTSW |
2 |
26,836,744 (GRCm39) |
splice site |
probably null |
|
|
R2001:Stkld1
|
UTSW |
2 |
26,842,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2308:Stkld1
|
UTSW |
2 |
26,842,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2566:Stkld1
|
UTSW |
2 |
26,840,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3929:Stkld1
|
UTSW |
2 |
26,830,059 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4257:Stkld1
|
UTSW |
2 |
26,833,146 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4493:Stkld1
|
UTSW |
2 |
26,836,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4494:Stkld1
|
UTSW |
2 |
26,836,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4589:Stkld1
|
UTSW |
2 |
26,840,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4775:Stkld1
|
UTSW |
2 |
26,841,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5601:Stkld1
|
UTSW |
2 |
26,842,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Stkld1
|
UTSW |
2 |
26,833,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Stkld1
|
UTSW |
2 |
26,839,393 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6306:Stkld1
|
UTSW |
2 |
26,833,899 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6349:Stkld1
|
UTSW |
2 |
26,835,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6418:Stkld1
|
UTSW |
2 |
26,831,093 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6806:Stkld1
|
UTSW |
2 |
26,833,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7079:Stkld1
|
UTSW |
2 |
26,839,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7199:Stkld1
|
UTSW |
2 |
26,842,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7522:Stkld1
|
UTSW |
2 |
26,837,259 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7556:Stkld1
|
UTSW |
2 |
26,837,307 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7813:Stkld1
|
UTSW |
2 |
26,835,888 (GRCm39) |
nonsense |
probably null |
|
|
R8165:Stkld1
|
UTSW |
2 |
26,836,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8330:Stkld1
|
UTSW |
2 |
26,841,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8709:Stkld1
|
UTSW |
2 |
26,835,817 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8935:Stkld1
|
UTSW |
2 |
26,833,941 (GRCm39) |
nonsense |
probably null |
|
|
R9137:Stkld1
|
UTSW |
2 |
26,840,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9599:Stkld1
|
UTSW |
2 |
26,843,297 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2015-04-16 |
Incidental Mutation